A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review

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dc.contributor.authorGokalp, Sabire
dc.contributor.authorInci, Asli
dc.contributor.authorKilic, Ayse
dc.contributor.authorOzsaydi, Ekin
dc.contributor.authorAltun, Ayse Nur
dc.contributor.authorDemir, Fevzi
dc.contributor.authorErgin, Filiz Basak
dc.date.accessioned2024-04-24T17:18:00Z
dc.date.available2024-04-24T17:18:00Z
dc.date.issued2024
dc.departmentDicle Üniversitesien_US
dc.description.abstractObjectives The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy. Case presentation The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy Conclusions We aimed to expand the clinical spectrum of pathogenic variants of TUFM.en_US
dc.identifier.doi10.1515/jpem-2023-0569
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.pmid38630895
dc.identifier.urihttps://doi.org/10.1515/jpem-2023-0569
dc.identifier.urihttps://hdl.handle.net/11468/18532
dc.identifier.wosWOS:001204010700001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMitochondiral Diseasesen_US
dc.subjectTufm Mutationen_US
dc.subjectCombined Oxidative Phosphorylation Deficiency 4en_US
dc.titleA very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature reviewen_US
dc.titleA very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review
dc.typeArticleen_US

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